Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia(来自ICD-11)

别称:

Hereditary Progressive Dystonia with Marked Diurnal Fluctuation

Autosomal Dominant Dopa-Responsive Dystonia

Autosomal Dominant Segawa Syndrome

Dyt5a

Gtpch1-Deficient Dopa-Responsive Dystonia

Hpd with Marked Diurnal Fluctuation

Dopa-Responsive Dystonia

Gtpch1-Deficient Drd

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia, also known as hereditary progressive dystonia with marked diurnal fluctuation, is related to parkinsonism and dystonia, and has symptoms including torticollis, dystonia, diurnal and gait ataxia. An important gene associated with Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia is GCH1 (GTP Cyclohydrolase 1). Affiliated tissues include brain, and related phenotypes are intellectual disability and sleep disturbance

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